Canonical Allele Identifier: CA2868076

Gene: QDPR

Linked Data

• ClinVar Variation Id: 1564436
• ClinVar RCV Id: RCV002216622
• dbSNP Id: rs767857309
• ExAC: 4:17493866 G / A
• gnomAD v2: 4-17493866-G-A
• gnomAD v4: 4-17492243-G-A
• MyVariant Identifiers: chr4:g.17493866G>A (hg19) ; chr4:g.17492243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492243G>A , CM000666.2:g.17492243G>A	GRCh38
NC_000004.11:g.17493866G>A , CM000666.1:g.17493866G>A	GRCh37
NC_000004.10:g.17102964G>A	NCBI36
NG_008763.1:g.24992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1581C>T
ENST00000281243.10:c.534C>T MANE Select	ENSP00000281243.5:p.Ile178=
ENST00000281243.9:c.534C>T	ENSP00000281243.5:p.Ile178=
ENST00000428702.6:c.441C>T	ENSP00000390944.2:p.Ile147=
ENST00000501943.6:n.271C>T
ENST00000505710.1:c.364-1498C>T
ENST00000507439.5:c.437-1498C>T	ENSP00000423227.1:n.437-1498C>T
ENST00000508623.5:c.437-5007C>T	ENSP00000426377.1:n.437-5007C>T
ENST00000511609.1:n.266C>T
ENST00000513615.5:c.437-1498C>T	ENSP00000422759.1:n.437-1498C>T
ENST00000514300.1:c.*368-1498C>T	ENSP00000426039.1:n.*368-1498C>T
NM_000320.2:c.534C>T	NP_000311.2:p.Ile178=
NM_001306140.1:c.441C>T	NP_001293069.1:p.Ile147=
XR_241677.1:n.600-1498C>T
NR_156494.1:n.617-1498C>T
NM_000320.3:c.534C>T MANE Select	NP_000311.2:p.Ile178=
NM_001306140.2:c.441C>T	NP_001293069.1:p.Ile147=
NR_156494.2:n.473-1498C>T